Fabry disease is caused by an inherited x-linked deficiency of the α-Galactosidase A (GLA) gene. GLA deficiency leads to systemic intracellular accumulation of the glycosphingolipid globotriaosylceramide (Gb3), mainly in heart, brain and kidney. Podocyte injury du to progressive Gb3 accumulation is the major cause for albuminuria, chronic kidney disease and kidney failure in patients with Fabry disease. To elucidate specific disease mechanisms in GLA deficiency we generated GLA knockouts in mouse, rat, fly and cultured podocytes followed by deep phenotyping and extensive omics analysis of these in-vivo and ex-vivo models. Our future work is focused to open new avenues for translational and precision medicine to ultimately prevent kidney failure in Fabry disease.


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Martin Helmstädter